Variant report

Variant	rs875997
Chromosome Location	chr2:56070026-56070027
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56004031..56006518-chr2:56068498..56070427,2	MCF-7	breast:
2	chr2:56068913..56070987-chr2:56145608..56147872,2	MCF-7	breast:
3	chr2:56066504..56070179-chr2:56070783..56074906,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10173540	0.96[ASN][1000 genomes]
rs10180043	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10196888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12104451	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394642	0.98[ASN][1000 genomes]
rs13409792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13413609	0.86[ASN][1000 genomes]
rs13426650	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28744383	0.98[ASN][1000 genomes]
rs4519567	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58754091	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6723695	0.96[ASN][1000 genomes]
rs72807739	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72807740	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7577580	0.96[ASN][1000 genomes]
rs7604558	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56064800-56070200	Weak transcription	K562	blood
2	chr2:56066800-56070600	Weak transcription	Liver	Liver
3	chr2:56066800-56082600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:56067600-56070200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:56067800-56070200	Weak transcription	HMEC	breast
6	chr2:56068400-56070200	Enhancers	Hela-S3	cervix
7	chr2:56068600-56071400	Flanking Active TSS	A549	lung
8	chr2:56068600-56071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:56068800-56070400	Enhancers	Placenta	Placenta
10	chr2:56068800-56071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:56068800-56071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:56068800-56071400	Enhancers	Fetal Intestine Small	intestine
13	chr2:56068800-56072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:56068800-56072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:56068800-56072000	Enhancers	Osteobl	bone
16	chr2:56069000-56071000	Enhancers	HepG2	liver
17	chr2:56069000-56071200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:56069000-56071400	Enhancers	Fetal Intestine Large	intestine
19	chr2:56069000-56071600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:56069000-56071600	Enhancers	NHDF-Ad	bronchial
21	chr2:56069000-56071600	Enhancers	NHLF	lung
22	chr2:56069000-56072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56069200-56070200	Weak transcription	Gastric	stomach
24	chr2:56069200-56071400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:56069200-56071400	Enhancers	HSMM	muscle
26	chr2:56069200-56071600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:56069200-56071600	Enhancers	NHEK	skin
28	chr2:56069200-56071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:56069400-56070600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:56069600-56070800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:56069800-56070200	Weak transcription	Small Intestine	intestine
32	chr2:56069800-56071000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:56069800-56071400	Enhancers	Fetal Lung	lung
34	chr2:56069800-56071400	Enhancers	NH-A	brain
35	chr2:56070000-56070200	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:56070000-56070400	Flanking Active TSS	Stomach Mucosa	stomach
37	chr2:56070000-56070600	Enhancers	Pancreas	Pancrea
38	chr2:56070000-56070800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:56070000-56071000	Enhancers	Fetal Kidney	kidney
40	chr2:56070000-56071200	Enhancers	HSMMtube	muscle

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